Molecular genetics of alpha 2 plasmin inhibitor

Analysis of the cDNA for alpha 2PI and its expression experiment indicated that the leader sequence is pre-pro peptide containing an N-terminal hydrophobic prepeptide (signal sequence) of 27 amino acids, followed by a hydrophilic propeptide of 12 amino acids. The alpha 2PI gene contains 10 exons and 9 introns distributed over approximately 16 kilobases of DNA. Two families of hereditary alpha 2PI deficiency were found to have changes of nucleotide sequence in an exon coding for plasma alpha 2PI, resulting in productions of variant proteins. These proteins are mostly retained within the cells, resulting in a deficiency of alpha 2PI in a circulating blood plasma.